Article
[The dynamin-2-gene related centronuclear myopathy].
Medecine sciences : M/S - 1 Nov 2023
Bitoun Marc
Abstract excerpt
Autosomal dominant centronuclear myopathy (AD-CNM) is a rare congenital myopathy characterized by muscle weakness and centrally located nuclei in muscle fibers in the absence of any regeneration. AD-CNM is due to mutations in the DNM2 gene encoding dynamin 2 (DNM2), a large GTPase involved in intracellular membrane trafficking and a regulator of actin and microtubule cytoskeletons. DNM2 mutations are associated...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
